Gene table of SMARCE1 : SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with SMARCE1OMIM linkNumber of associated genesgenes
PS156200MENTAL RETARDATION, AUTOSOMAL DOMINANTClinVar link to OMIM 44EHMT1, KANSL1, AHDC1, SOX11, CDH15, KIRREL3, EEF1A2, KAT6A, ZMYND11, ARID1A, KMT2C, PPP2R5D, DYNC1H1, GRIN1, CTCF, SETD5, AUTS2, PACS1, DPP6, MBD5, DEAF1, KIF1A, SYNGAP1, PURA, POGZ, EPB41L1, PPP2R1A, NR1I3, CTNNB1, ARID1B, MYT1L, CACNG2, COL4A3BP, SMARCB1, MEF2C, SMARCE1, SMARCA4, ZBTB18, ADNP, GATAD2B, SETBP1, GRIN2B, CHAMP1, DYRK1A
PS135900COFFIN-SIRIS SYNDROMEClinVar link to OMIM 5SMARCE1, SMARCB1, ARID1B, SMARCA4, ARID1A
607174MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TOOMIM link to OMIM 6PTEN, PDGFB, NF2, MN1, SUFU, SMARCE1

Download the gene annotation in CSV format

Annotation of the gene SMARCE1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
RMTs methylate histone argininesR-HSA-32148587.49
Chromatin organizationR-HSA-48397265.19
Chromatin modifying enzymesR-HSA-32475095.19
Associated GO terms for Molecular function
GO termGO IDGO IC
RNA polymerase II regulatory region sequence-specific DNA bindingGO:00009773.37
RNA polymerase II regulatory region DNA bindingGO:00010123.36
core promoter proximal region DNA bindingGO:00011593.82
enhancer sequence-specific DNA bindingGO:00011585.36
nucleosome bindingGO:00314915.95
chromatin DNA bindingGO:00314905.37
nucleosomal DNA bindingGO:00314926.37
macromolecular complex bindingGO:00448772.61
bindingGO:00054880.18
nucleic acid bindingGO:00036761.44
DNA bindingGO:00036771.92
heterocyclic compound bindingGO:19013631.06
sequence-specific DNA bindingGO:00435652.79
structure-specific DNA bindingGO:00435664.98
sequence-specific double-stranded DNA bindingGO:19908373.2
N-acetyltransferase activityGO:00080805.27
transcription coactivator activityGO:00037134.04
transcription cofactor activityGO:00037123.44
transferase activityGO:00167401.95
transferase activity, transferring acyl groupsGO:00167464.2
transferase activity, transferring acyl groups other than amino-acyl groupsGO:00167474.37
N-acyltransferase activityGO:00164105.08
transcription factor activity, protein bindingGO:00009883.35
protein complex bindingGO:00324033.09
double-stranded DNA bindingGO:00036903.09
RNA polymerase II distal enhancer sequence-specific DNA bindingGO:00009805.58
transcription factor activity, transcription factor bindingGO:00009893.36
core promoter proximal region sequence-specific DNA bindingGO:00009873.83
regulatory region nucleic acid bindingGO:00010673.03
catalytic activityGO:00038241.05
enhancer bindingGO:00353265.21
ligand-dependent nuclear receptor bindingGO:00169226.6
receptor bindingGO:00051022.43
transcription regulatory region DNA bindingGO:00442123.03
protein N-terminus bindingGO:00474855.11
organic cyclic compound bindingGO:00971591.05
acetyltransferase activityGO:00164075.1
transcription regulatory region sequence-specific DNA bindingGO:00009763.24
RNA bindingGO:00037232.36
protein bindingGO:00055150.46
regulatory region DNA bindingGO:00009753.03
RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009783.88
chromatin bindingGO:00036823.64